FoundationOne CDx detected an uncovered variant of epidermal growth factor receptor exon 19 deletion by Oncomine Dx target test in a patient with lung adenocarcinoma

Hiroki Takahashi; Hirokazu Ogino; Hiroki Bando; Atsushi Mitsuhashi; Yuki Tsukazaki; Yohei Yabuki; Ryohiko Ozaki; Hiroto Yoneda; Seidai Sato; Masaki Hanibuchi; Yasuhiko Nishioka

doi:10.1016/j.rmcr.2023.101893

FoundationOne CDx detected an uncovered variant of epidermal growth factor receptor exon 19 deletion by Oncomine Dx target test in a patient with lung adenocarcinoma

Respir Med Case Rep. 2023 Jul 7:45:101893. doi: 10.1016/j.rmcr.2023.101893. eCollection 2023.

Authors

Affiliations

¹ Department of Respiratory Medicine and Rheumatology, Graduate School of Biomedical Sciences, Tokushima University, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan.
² Department of Internal Medicine, Anan Medical Center, 6-1, Kawahara, Takarada-cho, Anan-shi, Tokushima, 774-0045, Japan.
³ Department of Community Medicine for Respirology, Hematology and Metabolism, Graduate School of Biomedical Sciences, Tokushima University, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.

Abstract

A non-smoker woman with advanced lung adenocarcinoma was referred to us. The Oncomine Dx target test (ODxTT), a next-generation sequencing (NGS)-based hot spots panel test, did not detect any driver mutations, so we treated her with chemo-immunotherapy. After second-line chemotherapy, we performed FoundationOne CDx, a NGS-based comprehensive genomic profiling (CGP) test, and identified a rare variant of epidermal growth factor receptor exon 19 deletion that had not been covered by ODxTT. This case highlights the importance of considering the indication of a CGP test for patients who are likely to harbor driver mutations, even when ODxTT fails to detect any.

Keywords: Comprehensive genomic profiling; Driver mutations; Epidermal growth factor receptor; FoundationOne CDx; Lung adenocarcinoma; Oncomine dx target test.

Publication types

Case Reports